Canonical Allele Identifier: PA1139675640
Gene: RPE65 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Gly63Arg
CA340749045
NM_000329.3:c.187G>C
CA340749046
NM_000329.3:c.187G>A